Highlights the importance of early recognition of OTCD symptoms in adults, suggesting timely metabolic testing can prevent fatal outcomes.
To heighten clinical vigilance for adult-onset hyperammonemia due to previously unrecognized Ornithine Transcarbamylase Deficiency (OTCD), a treatable but often missed cause of acute neurologic decline and death and to increase awareness among neurologists regarding the variable and often subtle prodromal symptoms, and importance of early recognition and metabolic testing to enable timely intervention and prevent fatal outcomes.
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Gropman et al. (2026) studied this question.
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